February 1, 2023

Vexas syndrome, a rare inflammatory disease, may be more common than previously thought, study suggests

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(CNN) — David Adams spent half a decade fighting a disease he couldn’t put a name to. He was in and out of the hospital several times a year. His swollen joints made his hands feel like gloves had been put on them. He could no longer play his beloved classical and jazz guitars.

He had constant fever and fatigue. He even developed pain and swelling in his genitals, which was his first sign that something was seriously wrong.

“At the end of 2016, I started feeling very painful effects on my private parts,” explains Adams, now 70. “After that, again, a lot of fatigue, my primary care doctor at the time ordered blood work, and my white blood cell count was very, very low.”


David Adams in hospital during an outbreak of vexas syndrome symptoms. Credit: Courtesy of David Adams

Next, Adams, who lives in Alexandria, Virginia, saw a hematologist, a pulmonologist, a urologist, a rheumatologist, and then a dermatologist. Some of them thought that she might have cancer.

Adams’s symptoms continued, with more fatigue, pneumonia and a large rash below her waist. She tried at least a dozen medications, saw about two dozen doctors, and nothing helped.

In 2019, his symptoms worsened to the point that they forced him into early retirement from his decades-long career in clinical data systems. But he still didn’t know what was causing the problems.

Finally, in 2020, scientists at the National Institutes of Health (NIH) discovered and named a rare genetic disorder: vexas syndromewhich affects the body through inflammation and blood problems.

Adams had an appointment with his rheumatologist at the time, and when he walked into the office, he saw that his doctor “was excited like a little kid.”

In the hands of his doctor was a copy of a study of New England Journal of Medicine detailing the discovery of vexas syndrome.

Adams had his answer.

“For the first time, there was a one-to-one correlation of symptoms,” he said. “It was quite a shock.”

A “vast majority” undiagnosed or misdiagnosed

An estimated 1 in 13,500 people in the United States may have vexas syndrome, a new study suggests. Which means this mysterious and sometimes deadly inflammatory disorder may be more prevalent than previously thought.

By comparison, the genetic disorder spinal muscular atrophy affects 1 in 10,000 people and the Huntington’s disease occurs in 1 in 10,000 to 20,000 people.

Occasional cases of vexas have been reported in medical research since its discovery, but the study reveals new estimates of its prevalence.

The research, published this Tuesday in the academic journal NEVER, suggests that about 1 in 13,591 people in the US have UBA1 gene mutationswhich develop later in life and cause vexas syndrome.

vexas syndrome

Dr. David Beck, an associate professor at NYU Langone Health, studies UBA1 gene mutations among patients with vexas. Credit: NYU Langone Health

“This study shows that there are probably tens of thousands of patients in the US who have this disease, and that the vast majority of them are probably not being recognized because doctors aren’t really looking at it as a broader diagnosis,” he says. the Dr David Beckan adjunct professor in the NYU Langone Health Department of Medicine and lead author of the study.

Vexas syndrome is not hereditary, so people who have it do not pass the disease on to their children. But the UBA1 gene is on the X chromosome, so the syndrome is a X-linked disease. It predominantly affects males, who carry a single X chromosome. Females have two X chromosomes, so if they have a mutation in a gene on one X chromosome but not the other, they are not usually affected.

“It’s present in 1 in 4,000 men over the age of 50. So we think it’s a disease to think about in terms of testing for individuals who have symptoms,” said Beck, who also led the research team. that identified the shared UBA1 mutation among patients with the syndrome in 2020.

“The advantage that vexas syndrome has is that we have a test. We have a genetic test that can directly help provide the diagnosis,” he said. “It’s just a matter of patients who meet the criteria, who are elderly individuals with systemic inflammation, low blood counts, who really aren’t responding to anything other than steroids, and advocating their doctors for genetic testing to get a diagnosis”.

Adams, who became Beck’s patient, said finally getting a diagnosis, and understanding the cause of his symptoms, was life-changing.

“It really was incredibly liberating to have the diagnosis,” he said.

“You cannot fight your enemy if he has no name,” he added. “We finally had something we could point to and say, ‘Okay, we understand what’s going on. This is vexas.’

Serious nature of the disease

For the new study, Beck and colleagues from the NIH, New York University, Geisinger Research and other institutions analyzed data from 163,096 patients in a health system in central and northeastern Pennsylvania, from January 1996 to January 2022. , including electronic medical records and blood samples.

Eleven of the patients had a disease-causing UBA1 variant, and a twelfth person had a “highly suspicious” variant.

Only three of the 12 are still alive. A previously reported survival rate at five years of 63% with vexas syndrome.

Among the 11 patients in the new study who had pathogenic variants in UBA1, only two were women. Seven had arthritis as a symptom, and four had been diagnosed with rheumatic diseases, such as skin psoriasis or sarcoidosis, which causes inflamed lumps on the body. All had anemia or a low blood cell count.

“None had previously been clinically diagnosed with vexas syndrome,” Beck said.

The finding “highlights how important it is to be able to select these patients, give them the diagnosis and start aggressive therapies or aggressive treatments to keep their inflammation under control,” he said.

Vexas syndrome (named as an acronym for the five clinical features of the disease) has no standard treatment or cure, but Beck noted that symptoms can be controlled with medications such as prednisone or other immunosuppressants.

“But the toxicities of prednisone over the years present a challenge. There are other anti-inflammatory drugs that we use, but at the moment they are only partially effective,” he said. “One treatment for individuals that we have seen to be very effective is bone marrow transplantation. That carries its own risks, but it only underscores the severity of the disease.”

Although the new study helps provide estimates of the prevalence and symptoms of vexas syndrome, the data is not representative of the entire United States, and Beck said more research is needed in a larger and more diverse group of people.

Some men might be hesitant to seek medical attention for vexas symptoms, but Adams said doing so could save their lives.

“Over time, it will get so bad that you’ll end up like my first hospital stay, at death’s door,” Adams says. “You don’t want to be in that situation.”

Adams has been taking prednisone to relieve his symptoms, and it has helped. But because steroid use can have side effects like cataracts and weight gain, she has been working with her doctors to find other therapies that allow her to reduce her use of the medication.

many different facets

Beck and his colleagues are studying targeted therapies for vexas syndrome, in addition to performing bone marrow transplant trials with stem cells at the NIH.

“The disease presents many different facets,” he said last month in a Press release of NIH is Dr. Bhavisha Patel, a hematologist and investigator in the Laboratory of Hematopoiesis and Bone Marrow Failure at the National Heart, Lung, and Blood Institute.

“I think that’s what’s challenging when we think about treatment, because it’s so heterogeneous,” said Patel, who was not involved in the new study.

“Both at NIH and around the world, groups that have dedicated themselves to [investigar] vexas are looking for medical therapies to offer to other patients who do not qualify for a bone marrow transplant,” he said. “We continue to collaborate on many projects to further categorize this disease and ultimately come up with the best treatment options.” .

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